Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
Shimadzu
M
M
Department of Genetics, Mitsubishi Kagaku Bio-clinical Laboratories, Itabashi, Shimura, Japan.
Matsumoto
H
H
Matsuura
T
T
Kobayashi
K
K
Komaki
S
S
Kiwaki
K
K
Hoshide
R
R
Endo
F
F
Saheki
T
T
Matsuda
I
I
D017668:Age of Onset; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D017384:Sequence Deletion
D018076:DNA, Complementary; D004247:DNA; D009954:Ornithine Carbamoyltransferase